Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127473850G>A , CM000670.2:g.127473850G>A | GRCh38 |
| NC_000008.10:g.128486095G>A , CM000670.1:g.128486095G>A | GRCh37 |
| NC_000008.9:g.128555277G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_024393.1:n.1041+5233C>T | ||
| NR_117100.1:n.1041+5233C>T |